Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case represents the first literature report of an adenomatoid tumor that arises primarily in the small intestine of a 44-year-old woman, who presented with intermittent upper abdominal pain accompanied by nausea and vomiting. The resected tumor was grossly unencapsulated and had a gray-tan color on its cut surface. Microscopically, it consisted of variably sized tubules and glandular spaces which involved the whole layers of the intestine. The mesothelial nature of the lesion was subsequently verified by the immunopositivity for pancytokeratin (AE1/AE3), HBME-1, calretinin, D2-40, and WT1 with cells lining the tubules and glandular spaces. Albeit very rare, adenomatoid tumor should be included in the differential diagnosis of tubular or glandular tumors occurring in the small intestine.
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PMID:Adenomatoid tumor of the small intestine: the first case report and review of the literature. 2510 19

We describe the case of a 5-year-old girl whose abdominal pain and distension were caused by Wilms tumor of the kidney. Because of the bilateral nature of her disease, she was spared biopsy or initial nephrectomy as part of her treatment course. Rather, she was treated presumptively for Wilms tumor based primarily on radiologic findings. Neoadjuvant chemotherapy consisting of vincristine, dactinomycin and doxorubicin was given to facilitate nephron-sparing surgery for tumor resection. Her initial chemotherapeutic course was complicated by tumor lysis syndrome manifested by elevated serum uric acid and was treated effectively with hyperhydration and alkalization of intravenous fluids. The patient's disease responded well to chemotherapy, and she underwent successful tumor excision after 12 weeks of chemotherapy. The resected tumor was identified as anaplastic Wilms tumor, illustrating that pathologic identification of Wilms tumor is possible even after multiple cycles of neoadjuvant chemotherapy and marked tumor shrinkage.
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PMID:Delayed tumor resection in a 5-year-old child with bilateral Wilms tumor. 2496 23

Medical records of 71 children with Wilms' tumor at Sisli Etfal Education and Research Hospital between 1990 and 2014 were reviewed. Mean age at diagnosis was 3.11 years (2 days-7 years). Male to female ratio was M/F = 6/10. The incidence of associated anomaly was 16.9%. Clinical manifestations included abdominal mass (89%), hematuria (30%), hypertansion (25%), abdominal pain (15%), fever (5%), restlessness (2%), weight loss (2%), varicocele (1%). Ultrasound (USG) was the most often initial study in a child presenting with abdominal mass. Doppler USG was also made to evaluate the inferior vena cava (IVC) for the presence of tumor extension in children with renal mass. The left kidney was affected in 33 patients (46.5%), the right was affected in 31 patients (43.7%). Two patients was extrarenal (2.8%). And 5 patients (7.04%) were bilateral on the presentation. Preoperative chemotheraphy was done in 14 cases. In 63 patients with unilateral Wilm tm, unilateral radical nefrectomy is performed. In one patient with solitary kidney, nephron sparing surgery (NSS) is performed. In 3 patients with bilateral tm NSS is performed and in 2 patients with bilateral Wilms' tm NSS is performed in one side and nefrectomy on the other side. Out of 71 Wilms tumor (WT) patients, 17 of them has been out of our follow. And 4 of them are died. Ten of them has metastases. Forty children are under follow with no metastases. Patients with WT needs a multimodal, multidisiplinary treatment with the cooperation of pediatric oncologist and pediatric surgeon and needs close follow-up.
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PMID:Wilms' tumor: a 24-year retrospective study from a single center. 2500 81

Small cell carcinoma of the ovary, hypercalcemic type is a very rare aggressive neoplasm of unknown histogenesis, affecting mainly girls and young women. Recently, inactivating mutations in SMARCA4 (BRG1), a member of the switch/sucrose nonfermenting chromatin remodeling complex, has been identified as driver events in most cases. We herein describe 3 cases in 34, 34, and 37-year-old women. Symptoms were mainly abdominal pain and mass. One patient was normocalcemic, and the other 2 had no preoperative serum calcium values available. All patients received radical hysterectomy with salpingo-oophorectomy, lymphadenectomy, and variable multimodality therapy. Two developed abdominal recurrences/metastases and died of disease at 4 and 12 months. One patient was alive without disease 17 months after surgery and radiochemotherapy. Histologic examination showed undifferentiated neoplasms composed of diffuse sheets, nests and cords of noncohesive monomorphic small blue/basaloid cells (classic variant, 1 case), and large undifferentiated/rhabdoid cells with abundant cytoplasm (large cell/rhabdoid variant, 2 case) admixed with minor small cell areas. One case contained rare isolated goblet cells, but true glandular component was absent. All tumors expressed vimentin and variably pancytokeratin and WT1. Nuclear SMARCB1 was intact in all cases (1 case showed small foci with mosaic loss). All tumors showed complete loss of SMARCA4. In conclusion, SMARCA4 immunohistochemistry represents a highly valuable emerging tool in identifying small cell carcinoma of the ovary, hypercalcemic type in routine practice. Distinguishing this aggressive neoplasm from juvenile granulosa cell tumor and other undifferentiated ovarian cancers is mandatory in selecting appropriate chemotherapeutic regimens and would allow better characterization of this entity, for which targeted molecular therapy still remains to be established.
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PMID:SMARCA4-deficient undifferentiated carcinoma of the ovary (small cell carcinoma, hypercalcemic type): clinicopathologic and immunohistochemical study of 3 cases. 2612 3

Renal cell carcinoma is a rare pediatric malignant tumor of the kidney. Unlike Wilms tumor, the efficacy of chemotherapy and radiation therapy in pediatric renal cell carcinoma remains uncertain. Surgery is the best treatment and prognosis is favorable when the tumor is localized and completely eradicated. We report an exceptional observation in a 7-year-old girl with renal cell carcinoma who had been treated 20 months previously for Ewing sarcoma with chemotherapy and radiotherapy. The renal tumor was revealed by abdominal pain without hematuria. She underwent a radical nephrectomy, and histopathology concluded in renal carcinoma associated with translocation Xp 11.2 grade 3 of Furhrman pT3a N1. No adjuvant therapy was given. After 3 years of follow-up, there is no evidence of local or metastatic recurrence. This observation is significant given the very young age of this patient, the occurrence after Ewing sarcoma with a short disease-free interval. It seems that translocation renal cell carcinoma is associated with previous exposure to chemotherapy, particularly topoisomerase II inhibitors or alkylating agents.
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PMID:[Secondary TFE3-associated renal cell carcinoma in a child treated for Ewing sarcoma]. 2670 89

Wilms' tumor is the most common renal cancer in children. It can grow for a long time without any characteristic symptoms, causing only fever, abdominal pain, nausea, or vomiting, which is the reason why it is often discovered accidentally. In 1% to 4% of the cases, nephroblastoma leads to complications in the form of intravascular and intra-atrial extension. We present a case of a five-year-old boy with Wilms' tumor extending into the inferior vena cava, right atrium, and then prolapsing through the tricuspid valve into the right ventricle.
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PMID:Wilms' Tumor With Intra-Atrial Extension: Treatment and Management. 2671 6

Metanephric adenoma (MA) of the kidney is a rare and frequently benign tumor with a favorable prognosis that is often diagnosed following surgical treatment. In the present study, a 54-year-old female patient presented with complaints of intermittent right-flank pain and anterior abdominal pain occurring over 2 years and sporadic gross hematuria occurring over 3 months. Ultrasonography and computerized tomography imaging revealed a neoplasm lesion localized in the right kidney. Successful open approach radical nephrectomy was performed and post-surgical histopathological examination verified the lesion as a MA of the kidney. Radical nephrectomy, cryoablation or radiofrequency may used to treat MA and a selective panel of immunostains, including WT1, EMA and AMACR, may be useful for diagnosis.
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PMID:A metanephric adenoma of the kidney associated with polycythemia: A case report. 2687 Feb 16

Genitourinary tuberculosis usually occurs in young adults and the middle-aged and is very uncommon in the paediatric population. It generally presents with haematuria, pyuria, irritative voiding symptoms and flank pain; presentation as a renal mass is highly unusual. We report a two-year-old girl who was referred to the Nil Ratan Sircar Medical College, Kolkata, India, in June 2014 with abdominal pain. Subsequent radiological investigations revealed a left renal hypoechoic mass lesion. A left nephroureterectomy was performed on suspicion of a Wilms' tumour. Histopathology indicated an epithelioid granuloma with lymphocytic infiltration, suggestive of a tubercular aetiology. A Mantoux tuberculin skin test was positive; however, there was no evidence of tuberculosis detected elsewhere in the body and the source of the infection could not be identified. A diagnosis of renal tuberculosis was made and the child was treated with antitubercular drugs. The patient was asymptomatic at a six-month follow-up.
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PMID:Renal Tuberculosis Presenting as a Mass Lesion in a Two-year-old Girl: Report of a rare case. 2690 99

Xanthogranulomatous pyelonephritis (XGPN) is a very rare, unusual variant of pyelonephritis characterized by destruction of renal parenchyma. It usually occurs in adults with a history of recurrent urinary tract infections. The condition is rare in children and the disease can imitate renal tumors. Here, we describe a 12-year-old boy who presented with abdominal pain. He did not have any history of urinary tract infection. Computed tomography and magnetic resonance imaging showed a cystic lesion in the left upper kidney. The patient underwent radical nephrectomy with a provisional diagnosis of Wilms tumor however histopathological examination of specimen revealed XGPN. Xanthogranulomatous pyelonephritis should be kept in mind in the differential diagnosis of renal lesions in childhood, during surgery if any suspicion from the diagnosis, a frozen biopsy should have been taken.
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PMID:A case of xanthogranulomatous pyelonephritis mimicking Wilms tumor. 2718 8

Extrarenal nephroblastoma (ERNB) is a rare disease. We report a case of ERNB in a 4-year-old boy complaining of abdominal pain and vomiting. Imaging showed a retroperitoneal mass and left hydronephrosis. The mass was completely removed by surgery. The pathologic diagnosis was ERNB with favorable histology. Postoperative chemotherapy was administered for 24 weeks with actinomycin D, vincristine, and doxorubicin. No signs of recurrence were found for the next 3 years. We consider 53 reports of ERNB and our own. Median age at diagnosis was 42 months. The most common site is the retroperitoneal space (44.4%), followed by the uterus (14.8%).
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PMID:Extrarenal Nephroblastoma of the Retroperitoneal Space in Children: A Case Report and Review of the Literature. 2757 Nov 27


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